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Article

CNOT1 p.Arg535Cys variant in holoprosencephaly with late onset diabetes mellitus.

American journal of medical genetics. Part A - 1 Dec 2024

de Queiroz Júnior Amaro Freire, Sanseverino Maria Teresa Vieira, Collares Marcus Vinicius Martins, Fornari Adriana, do Virmond Luiza Amaral, Filho João Bosco Oliveira, Artigalás Osvaldo, Félix Têmis Maria

Abstract excerpt

Holoprosencephaly (HPE) results from a lack of cleavage of the prosencephalon. It has a complex etiology, resulting from chromosome abnormalities or single gene variants in the Sonic hedgehog signaling pathway. A single variant, p.Arg535Cys in CNOT1, has been described in HPE in association with pancreatic agenesis and neonatal diabetes. Here, we report on a case of HPE and p.Arg535Cys in CNOT1 without pancreatic...

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Source

Identifiers

PMID: 39149840
DOI: 10.1002/ajmg.a.63836

Genes

CNOT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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